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Massive CMT study aims to map disease progression over five years

NCT ID NCT01193075

Knowledge-focused Sponsor: Michael Shy Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This observational study follows up to 5,000 people with Charcot Marie Tooth disease (CMT) types 1B, 2A, 4A, and 4C over five years. Researchers will measure symptoms, nerve function, and disability using special scales to understand how the disease changes over time. The goal is to improve future clinical trials and care for people with CMT.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this study could provide crucial data to design better treatments and clinical trials for CMT.
What could go wrong
This is an observational study, not testing any treatment. It may not directly lead to new therapies, and results depend on long-term participation.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 5,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Apr 2010

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Patients who present to a participating site and have Charcot Marie Tooth disease (CMT) will be recruited for participation.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: All patients must be seen in-person at a participating center for the initial visit. Inclusion Criteria - patients with CMT (all subtypes) 1. Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s) OR 2. Patient has a first- or second-degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented pathogenic or likely pathogenic CMT-causing variant AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a pathogenic or likely pathogenic variant, and the parent does not have any signs, symptoms, or electrophysiology consistent with the diagnosis, there is no clear link unless the parent has also been found to have the pathogenic or likely pathogenic variant such as in cases with reduced penetrance ii. In cases where clear links are not available, genetic testing is required for the patient or the family member who is not clearly affected. 3. Patients who have a variant of uncertain significance, as determined by the laboratory performing the testing may still be included if one of the following circumstances applies: i. Variant is categorized as pathogenic or likely pathogenic per the ACMG variant interpretation guidelines. \[80, 81\] ii. Variant has been found in multiple affected people in a family and has not been found in unaffected family members. (Note - both affected and unaffected family members must be tested in this situation to be included). iii. The principal investigator and the site investigator agree that the variant(s) is (are) most likely pathogenic. 4. Patients whose clinical presentation is suggestive of CMT, but CMT type and variant are unknown will be characterized by the following categories: 1. Nerve conduction velocities: demyelinating, axonal, intermediate 2. Inheritance: dominant, recessive, X-linked, or unknown 5. Patient or patient's legally authorized representative has understood and signed an IRB approved consent form for the study. Teenagers (age 13 - 17 years) and cognitively impaired adults who are able to read and write must sign an assent form (depending on local ethics committee requirements). Inclusion Criteria - Controls 1. Person does not have a peripheral neuropathy, as determined by the investigator. 2. Person has understood and signed an IRB approved consent form for the study. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements). EXCLUSION CRITERIA 1. Patient has a variant of uncertain significance that cannot be further classified following methods listed in the Inclusion Criteria. 2. Patient does not wish to be a part of the study or has not signed an informed consent form. 3. Patient is deemed inappropriate by the Site PI.

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Conditions

The condition(s) this trial relates to.

Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4C hereditary motor and sensory neuropathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Charcot-Marie-Tooth disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    22 sites in 5 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Study contacts

  • Contact

    Email: •••••@•••••

  • Contact

    Email: •••••@•••••

Locations

  • C. Besta Neurological Institute

    RECRUITING

    Milan, Milan, Italy

  • Cedars-Sinai Medical Center

    RECRUITING

    Los Angeles, California, 90048, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Children's National Hospital

    RECRUITING

    Washington D.C., District of Columbia, 20010, United States

  • Harvard/Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02114, United States

  • Johns Hopkins University

    RECRUITING

    Baltimore, Maryland, 21205, United States

  • National Hospital of Neurology and Neurosurgery

    RECRUITING

    London, England, WC1N 3BG, United Kingdom

  • Nemours Children's Health

    RECRUITING

    Orlando, Florida, 32827, United States

  • Nemours Children's Hospital

    RECRUITING

    Orlando, Florida, 32827, United States

  • Seattle Children's Hospital

    NOT_YET_RECRUITING

    Seattle, Washington, 98105, United States

  • St. Jude Children's Research Hospital

    RECRUITING

    Memphis, Tennessee, 38105-3678, United States

  • Stanford University

    RECRUITING

    Palo Alto, California, 94305, United States

  • The Hospital for Sick Children

    RECRUITING

    Toronto, Ontario, M5G 1E8, Canada

  • University of Colorado Hospital

    RECRUITING

    Aurora, Colorado, 80045, United States

  • University of Connecticut/Connecticut Children's Medical Center

    RECRUITING

    Hartford, Connecticut, 06106, United States

  • University of Iowa

    RECRUITING

    Iowa City, Iowa, 52242, United States

    Contact Email: •••••@•••••

  • University of Miami

    RECRUITING

    Miami, Florida, 33136, United States

  • University of Michigan

    NOT_YET_RECRUITING

    Ann Arbor, Michigan, 48109, United States

  • University of Minnesota

    RECRUITING

    Minneapolis, Minnesota, 55455, United States

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • University of Rochester

    RECRUITING

    Rochester, New York, 14642, United States

  • University of Westmead

    RECRUITING

    Sydney, New South Wales, 2145, Australia

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